Search results for "Variant"

showing 10 items of 1267 documents

A New Technique of Invariant Statistical Embedding and Averaging in Terms of Pivots for Improvement of Statistical Decisions Under Parametric Uncerta…

2021

In this chapter, a new technique of invariant embedding of sample statistics in a decision criterion (performance index) and averaging this criterion via pivotal quantities (pivots) is proposed for intelligent constructing efficient (optimal, uniformly non-dominated, unbiased, improved) statistical decisions under parametric uncertainty. This technique represents a simple and computationally attractive statistical method based on the constructive use of the invariance principle in mathematical statistics. Unlike the Bayesian approach, the technique of invariant statistical embedding and averaging in terms of pivotal quantities (ISE&APQ) is independent of the choice of priors and represents …

Mathematical optimizationComputer scienceMathematical statisticsPrior probabilityBayesian probabilityEmbeddingDecision ruleInvariant (mathematics)ConstructiveParametric statistics
researchProduct

Theoretical study of the Ξ(1620) and Ξ(1690) resonances in Ξc→π+MB decays

2017

Nonleptonic weak decays of ${\mathrm{\ensuremath{\Xi}}}_{c}$ into ${\ensuremath{\pi}}^{+}$ and a meson $(M)$-baryon $(B)$ final state, $MB$, are analyzed from the viewpoint of probing $S=\ensuremath{-}2$ baryon resonances, i.e., $\mathrm{\ensuremath{\Xi}}(1620)$ and $\mathrm{\ensuremath{\Xi}}(1690)$, of which spin-parity and other properties are not well known. We argue that the weak decay of ${\mathrm{\ensuremath{\Xi}}}_{c}$ is dominated by a single quark-line diagram, preferred by the Cabibbo-Kobayashi-Maskawa coefficient, color recombination factor, the diquark correlation, and the kinematical condition. The decay process has an advantage of being free from meson resonances in the ${\ens…

PhysicsParticle physicsUnitarityMeson010308 nuclear & particles physicsHigh Energy Physics::PhenomenologyResonanceState (functional analysis)Lambda01 natural sciencesBaryonDiquark0103 physical sciencesInvariant mass010306 general physicsPhysical Review C
researchProduct

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

2017

Item does not contain fulltext Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk. We conducted a genome-wide association meta-analysis of IOP and optic disc parameters and validated our findings in multiple sets of POAG cases and controls. Using imputation to the 1000 genomes (1000G) reference set, we identified 9 new genomic regions associated with vertical cup-disc ratio (VCDR) and 1 new region associated with IOP. Additionally, we found 5 novel loci for optic ne…

0301 basic medicineMaleIntraocular pressuregenetic structuresOptic diskGlaucomaPROTEINGenome-wide association studyIDENTIFIES 5Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Optic neuropathyOptic Nerve DiseasesPROSTATEGenetics (clinical)RISKAssociation Studies ArticlesCOMMON VARIANTSGeneral MedicineMiddle AgedCANCER3. Good healthmedicine.anatomical_structureOptic nerveFemaleGlaucoma Open-AngleOptic discCyclin-Dependent Kinase Inhibitor p21medicine.medical_specialtyOpen angle glaucomaSUSCEPTIBILITY LOCIOptic Disk610 Medicine & healthBiology03 medical and health sciencesTonometry OcularOphthalmologyGeneticsmedicineHumansGENOME-WIDE ASSOCIATIONMolecular BiologyIntraocular PressureHomeodomain ProteinsP53Genome HumanPOPULATION-BASED EPIDEMIOLOGYZebrafish Proteinsmedicine.diseaseeye diseases030104 developmental biologysense organsGenome-Wide Association StudyHuman Molecular Genetics
researchProduct

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

2021

AbstractWhereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene,SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carryingSATB1variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression…

0301 basic medicineMaleModels MolecularMISSENSE MUTATIONSCHROMATINTranscription GeneticCellMedizinDiseaseHaploinsufficiencymedicine.disease_cause0302 clinical medicineMissense mutationde novo variantsGenetics (clinical)INTERLEUKIN-2seizuresGenetics0303 health sciencesMutationChromatin bindingneurodevelopmental disordersMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]SATB1Phenotypemedicine.anatomical_structureintellectual disabilityFemaleHaploinsufficiencyteeth abnormalitiesProtein BindingNeuroinformaticsEXPRESSIONGENESMutation MissenseBiologyBINDING PROTEINREGION03 medical and health sciencesSATB1Protein DomainsReportGeneticsmedicineHPO-based analysisHumansGenetic Association StudiesHpo-based Analysis ; Satb1 ; Cell-based Functional Assays ; De Novo Variants ; Intellectual Disability ; Neurodevelopmental Disorders ; Seizures ; Teeth Abnormalities030304 developmental biology[SDV.GEN]Life Sciences [q-bio]/GeneticsNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Matrix Attachment Region Binding Proteins030104 developmental biologyNeurodevelopmental DisordersMutationNanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]030217 neurology & neurosurgerycell-based functional assays
researchProduct

Discrete Derivatives for Atom-Pairs as a Novel Graph-Theoretical Invariant for Generating New Molecular Descriptors: Orthogonality, Interpretation an…

2013

This report presents a new mathematical method based on the concept of the derivative of a molecular graph (G) with respect to a given event (S) to codify chemical structure information. The derivate over each pair of atoms in the molecule is defined as ∂G/∂S(vi  , vj )=(fi -2fij +fj )/fij , where fi (or fj ) and fij are the individual frequency of atom i (or j) and the reciprocal frequency of the atoms i and j, respectively. These frequencies characterize the participation intensity of atom pairs in S. Here, the event space is composed of molecular sub-graphs which participate in the formation of the G skeleton that could be complete (representing all possible connected sub-graphs) or comp…

Discrete mathematicsSteric effectsQuantitative structure–activity relationshipOrganic ChemistryComputer Science Applicationschemistry.chemical_compoundchemistryStructural BiologyComputational chemistryMolecular descriptorDrug DiscoveryPrincipal component analysisMolecular MedicineMolecular graphLinear independenceInvariant (mathematics)Linear combinationMolecular informatics
researchProduct

Conjugate unstable manifolds and their underlying geometrized Markov partitions

2000

Abstract Conjugate unstable manifolds of saturated hyperbolic sets of Smale diffeomorphisms are characterized in terms of the combinatorics of their geometrized Markov partitions. As a consequence, the relationship between the local and the global point of view is also made explicit.

Discrete mathematicsSmale diffeomorphismsMathematics::Dynamical SystemsMarkov chainInvariant manifoldsGeometrized Markov partitionsPoint (geometry)Geometry and TopologyMathematics::Symplectic GeometryMathematics::Geometric TopologyConjugateMathematicsTopology and its Applications
researchProduct

On the divide between animate and inanimate

2015

Vitalism was abandoned already for a long time ago, yet the impression that animate beings differ in some fundamental way from inanimate objects continues to thrive. Here, we argue that scale free patterns, found throughout nature, present convincing evidence that this demarcation is only imaginary. Therefore, all systems ought to be regarded alike, i.e., all are consuming free energy in least time. This way evolutionary processes can be understood as a series of changes from one state to another, so that flows of energy themselves naturally select those ways and means, such as species and societies or gadgets and galaxies to consume free energy in the least time in quest of attaining therm…

General Chemical Engineeringmedia_common.quotation_subjectEnergy (esotericism)principle of least actionBiologyNon-determinismGeneral Biochemistry Genetics and Molecular BiologyThe principle of least actionLifeState (polity)Free energynon-determinismlaw of thermodynamicsThe Imaginarymedia_commonBalance (metaphysics)Scale (chemistry)Scale invariantGeneral Chemistryfree energyEpistemologyVitalismscale invariantThe second law of thermodynamicsCommentaryelämä
researchProduct

PyCellBase, an efficient python package for easy retrieval of biological data from heterogeneous sources.

2019

Background Biological databases and repositories are incrementing in diversity and complexity over the years. This rapid expansion of current and new sources of biological knowledge raises serious problems of data accessibility and integration. To handle the growing necessity of unification, CellBase was created as an integrative solution. CellBase provides a centralized NoSQL database containing biological information from different and heterogeneous sources. Access to this information is done through a RESTful web service API, which provides an efficient interface to the data. Results In this work we present PyCellBase, a Python package that provides programmatic access to the rich RESTfu…

Databases FactualComputer scienceAnnotationBiological databaseRESTfulcomputer.software_genreNoSQLlcsh:Computer applications to medicine. Medical informaticsBiochemistryDatabase03 medical and health sciencesAnnotationUser-Computer Interface0302 clinical medicineInstallationStructural BiologyVariantMolecular Biologylcsh:QH301-705.5030304 developmental biologycomputer.programming_language0303 health sciencesBiological dataDatabaseApplied MathematicsRepositoryComputational BiologyPython (programming language)CellBaseComputer Science Applicationslcsh:Biology (General)Scripting language030220 oncology & carcinogenesislcsh:R858-859.7Web servicecomputerSoftwarePython
researchProduct

Gestācijas dominantes psiholoģiskās komponentes hipogestognostiskā varianta izplatība un saistība ar atioforiognoziju dzemdību palīdzības iestādes pa…

2015

Ievads. Gestācijas dominantes psiholoģiskā komponente ir psihisko pašregulācijas mehānismu kopums grūtniecības saglabāšanai. Hipogestognostiskais variants raksturīgs sievietēm, kuras apzināti vai biežāk neapzināti nepieņem savu grūtniecību. Sakarā ar to, ka gestācijas dominantes psiholoģiskās komponentes hipogestognostiskais variants ir cieši saistīts ar grūtniecības noliegšanu, kas apdraud gan mātes, gan bērna dzīvību, nepieciešams pēc iespējas agrīni novērtēt grūtnieces psiholoģisko stāvokli. Pētījuma mērķis. Veicot prospektīvo pētījumu novērtēt grūtnieču gestācijas dominantes psiholoģiskās komponentes hipogestognostiskā varianta biežumu, kā arī noskaidrot grūtniecības nelabvēlīga iznākum…

DCMGestācijas dominantes psiholoģiskās komponentes hipogestognostiskais variantsSSKAtiogoriognozijaGrūtnieču attieksmju tests / Dobrjakova anketaMedicīna
researchProduct

Semileptonic decaysΛc+→Λℓ+νℓ(ℓ=e,μ)in the covariant quark model and comparison with the new absolute branching fraction measurements of Belle and BES…

2016

We present precise theoretical predictions for the absolute branching fractions of ${\mathrm{\ensuremath{\Lambda}}}_{c}^{+}\ensuremath{\rightarrow}\mathrm{\ensuremath{\Lambda}}{\ensuremath{\ell}}^{+}{\ensuremath{\nu}}_{\ensuremath{\ell}}(\ensuremath{\ell}=e,\ensuremath{\mu})$ decays in the covariant confined quark model. This study is motivated by two recent and accurate measurements of the absolute branching fractions of ${\mathrm{\ensuremath{\Lambda}}}_{c}^{+}\ensuremath{\rightarrow}p{K}^{\ensuremath{-}}{\ensuremath{\pi}}^{+}$ and ${\mathrm{\ensuremath{\Lambda}}}_{c}^{+}\ensuremath{\rightarrow}\mathrm{\ensuremath{\Lambda}}{e}^{+}{\ensuremath{\nu}}_{e}$ by the Belle Collaboration at the KE…

PhysicsParticle physicsKEKB010308 nuclear & particles physicsBranching fraction0103 physical sciencesPolarization observablesQuark modelHigh Energy Physics::ExperimentCovariant transformation010306 general physicsLambda01 natural sciencesPhysical Review D
researchProduct